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Periventricular nodular heterotopia

Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
or X-linked dominant
Age of onset -
  • Q04.8
  • C1868720
  • D054091
  • 10066854


Disease definition

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

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Detailed information

Clinical genetics review
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